Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance.
- NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_assertion description "[Study identified 5 mutations in RAF1 in 10 individuals with Noonan syndrome; those with mutations causing changes in the CR2 domain of RAF1 had hypertrophic cardiomyopathy, while those with mutations leading to changes in the CR3 domain did not.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance.
- NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_assertion evidence source_evidence_literature NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance.
- NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_assertion SIO_000772 17603482 NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance.
- NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_assertion wasDerivedFrom lhgdn-20090331 NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance.
- NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_assertion wasGeneratedBy ECO_0000203 NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP144155.RAALPnlIJHTGIlhqd57D1SRiAPwsI7SGyQ8Xwz7_GpN0k130_provenance.